Publications by authors named "M S R D N"

Genetic risk variants for common diseases are predominantly located in non-coding regulatory regions and modulate gene expression. Although bulk tissue studies have elucidated shared mechanisms of regulatory and disease-associated genetics, the cellular specificity of these mechanisms remains largely unexplored. This study presents a comprehensive single-nucleus multi-ancestry atlas of genetic regulation of gene expression in the human prefrontal cortex, comprising 5.

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Mucolipidosis type IV (MLIV) is classified as an exceptionally autosomal recessive condition due to a change in MCOLN1 that encodes the mucolipin-1 protein. ML-1 is a membrane protein comprising 6 Trans regions, which are situated at the LELs, a serine lipase area, and a nuclear localization sign. The characteristic features of the ML4 patients are mental retardation and skeletal deformities due to an increase in lipid molecules in the brain, other tissues, and organs.

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Article Synopsis
  • Parkinson's Disease (PD) is a serious brain disorder affecting over 1% of people over 60, leading to issues with movement and thinking, but its exact causes are still unclear.
  • To investigate the complexity of PD, researchers conducted single-nucleus RNA sequencing and whole-genome sequencing on 100 postmortem samples, selecting cases that represent varying stages and symptoms of the disease.
  • The resulting dataset, created with high standards of quality control, is freely available on the AMP PD Knowledge Platform, facilitating research into the molecular mechanisms of PD and potentially helping to improve treatment options.
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Rising temperature due to changing climate significantly impacts the production of tomato. The morpho-physiological functions of tomato such as gas exchange, growth and development, flowering, fruit setting, quality, fruit size, weight that can influence the yield and production is drastically affected by higher temperatures. Among the growth stages of tomato, flowering and fruit setting stage is highly vulnerable to high temperature resulting in reduced flower numbers, increased flower abortion, stigma exertion, abnormal ovule, reduced pollen germination, pollen numbers, pollen tube development, pollen viability and increased male sterility.

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In the intensive care unit (ICU), acute kidney injury (AKI) is the most common cause of morbidity and mortality. Hospital-acquired acute kidney injury (HAAKI) is AKI developing after 48 h. We aimed to study the development of AKI and its associated risk factors.

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